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Items: 1 to 50 of 168

1.

Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.

Coopmans EC, Chunharojrith P, Neggers SJCMM, van der Ent MW, Swagemakers SMA, Hollink IH, Barendregt BH, van der Spek PJ, van der Lely AJ, van Hagen PM, Dalm VASH.

Front Immunol. 2019 Aug 30;10:2079. doi: 10.3389/fimmu.2019.02079. eCollection 2019.

2.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
3.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D.

Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017.

PMID:
31374204
4.

Molecular clustering of genes related to the atopic syndrome: Towards a more tailored approach and personalized medicine?

de Wit J, van Wijck RTA, Dalm VASH, Snyder KL, Totté JEE, Pasmans SGMA, van der Spek PJ; Academic Center of Excellence (ACE) workgroups Allergic Diseases and Rare Immunological Disease Centre (RIDC).

Clin Transl Allergy. 2019 Jul 10;9:34. doi: 10.1186/s13601-019-0273-8. eCollection 2019.

5.

Increased serum levels of leptin and insulin in both schizophrenia and major depressive disorder: A cross-disorder proteomics analysis.

Çakici N, Bot M, Lamers F, Janssen T, van der Spek PJ, de Haan L, Bahn S, Penninx BWJH, van Beveren NJM.

Eur Neuropsychopharmacol. 2019 Jul;29(7):835-846. doi: 10.1016/j.euroneuro.2019.05.010. Epub 2019 Jun 21.

PMID:
31230885
6.

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Goos JAC, Vogel WK, Mlcochova H, Millard CJ, Esfandiari E, Selman WH, Calpena E, Koelling N, Carpenter EL, Swagemakers SMA, van der Spek PJ, Filtz TM, Schwabe JWR, Iwaniec UT, Mathijssen IMJ, Leid M, Twigg SRF.

Hum Mol Genet. 2019 Apr 3. pii: ddz072. doi: 10.1093/hmg/ddz072. [Epub ahead of print]

7.

Towards a rational design of faecal transplant analogues.

Larsen OFA, Koning AHJ, van der Spek PJ, Claassen E.

Sci Rep. 2019 Apr 3;9(1):5558. doi: 10.1038/s41598-019-42043-x.

8.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study, van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.

Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.

9.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS.

Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045. Erratum in: Brain. 2019 Jun 1;142(6):e29.

10.

Fatigue in Sjögren's Syndrome: A Search for Biomarkers and Treatment Targets.

Bodewes ILA, van der Spek PJ, Leon LG, Wijkhuijs AJM, van Helden-Meeuwsen CG, Tas L, Schreurs MWJ, van Daele PLA, Katsikis PD, Versnel MA.

Front Immunol. 2019 Feb 26;10:312. doi: 10.3389/fimmu.2019.00312. eCollection 2019.

11.

Combined cellular and soluble mediator analysis for improved diagnosis of vitreoretinal lymphoma.

de Hoog J, Dik WA, Lu L, Heezen KC, Ten Berge JC, Swagemakers SMA, van der Spek PJ, van Dongen JJM, van der Velden VHJ, Rothova A, Langerak AW.

Acta Ophthalmol. 2019 Sep;97(6):626-632. doi: 10.1111/aos.14036. Epub 2019 Jan 27.

12.

Galaxy mothur Toolset (GmT): a user-friendly application for 16S rRNA gene sequencing analysis using mothur.

Hiltemann SD, Boers SA, van der Spek PJ, Jansen R, Hays JP, Stubbs AP.

Gigascience. 2019 Feb 1;8(2). pii: giy166. doi: 10.1093/gigascience/giy166.

13.

On the origin of proteins in human drusen: The meet, greet and stick hypothesis.

Bergen AA, Arya S, Koster C, Pilgrim MG, Wiatrek-Moumoulidis D, van der Spek PJ, Hauck SM, Boon CJF, Emri E, Stewart AJ, Lengyel I.

Prog Retin Eye Res. 2019 May;70:55-84. doi: 10.1016/j.preteyeres.2018.12.003. Epub 2018 Dec 17. Review.

PMID:
30572124
14.

First trimester physiological development of the fetal foot position using three-dimensional ultrasound in virtual reality.

Bogers H, Rifouna MS, Cohen-Overbeek TE, Koning AHJ, Willemsen SP, van der Spek PJ, Steegers-Theunissen RPM, Exalto N, Steegers EAP.

J Obstet Gynaecol Res. 2019 Feb;45(2):280-288. doi: 10.1111/jog.13862. Epub 2018 Nov 18.

15.

Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase.

Zevenbergen C, Groeneweg S, Swagemakers SMA, de Jong A, Medici-Van den Herik E, Rispens M, Klootwijk W, Medici M, de Rijke YB, Meima ME, Larsen PR, Chavatte L, Venter D, Peeters RP, Van der Spek PJ, Visser WE.

J Clin Endocrinol Metab. 2019 May 1;104(5):1369-1377. doi: 10.1210/jc.2018-01605.

PMID:
30423129
16.

Type 1 interferon-inducible gene expression in QuantiFERON Gold TB-positive uveitis: A tool to stratify a high versus low risk of active tuberculosis?

La Distia Nora R, Sitompul R, Bakker M, Versnel MA, Swagemakers SMA, van der Spek PJ, Susiyanti M, Edwar L, Sjamsoe S, Singh G, Handayani RD, Rothova A, van Hagen PM, Dik WA.

PLoS One. 2018 Oct 18;13(10):e0206073. doi: 10.1371/journal.pone.0206073. eCollection 2018.

17.

A multidisciplinary review of triphalangeal thumb.

Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER.

J Hand Surg Eur Vol. 2019 Jan;44(1):59-68. doi: 10.1177/1753193418803521. Epub 2018 Oct 14.

18.

The complement system in glioblastoma multiforme.

Bouwens van der Vlis TAM, Kros JM, Mustafa DAM, van Wijck RTA, Ackermans L, van Hagen PM, van der Spek PJ.

Acta Neuropathol Commun. 2018 Sep 12;6(1):91. doi: 10.1186/s40478-018-0591-4. Review.

19.

Evaluation of First-Trimester Physiological Midgut Herniation Using Three-Dimensional Ultrasound.

Bogers H, Baken L, Cohen-Overbeek TE, Koning AHJ, Willemsen SP, van der Spek PJ, Exalto N, Steegers EAP.

Fetal Diagn Ther. 2019;45(5):332-338. doi: 10.1159/000489260. Epub 2018 Aug 15.

20.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

21.

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.

Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY, Höhn R, Yamashiro K, Wenocur A, Grazal C, Haller T, Metspalu A, Wedenoja J, Jonas JB, Wang YX, Xie J, Mitchell P, Foster PJ, Klein BEK, Klein R, Paterson AD, Hosseini SM, Shah RL, Williams C, Teo YY, Tham YC, Gupta P, Zhao W, Shi Y, Saw WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF; CREAM Consortium; 23andMe Research Team; UK Biobank Eye and Vision Consortium, Joshi PK, Tsujikawa A, Matsuda F, Whisenhunt KN, Zeller T, van der Spek PJ, Haak R, Meijers-Heijboer H, van Leeuwen EM, Iyengar SK, Lass JH, Hofman A, Rivadeneira F, Uitterlinden AG, Vingerling JR, Lehtimäki T, Raitakari OT, Biino G, Concas MP, Schwantes-An TH, Igo RP Jr, Cuellar-Partida G, Martin NG, Craig JE, Gharahkhani P, Williams KM, Nag A, Rahi JS, Cumberland PM, Delcourt C, Bellenguez C, Ried JS, Bergen AA, Meitinger T, Gieger C, Wong TY, Hewitt AW, Mackey DA, Simpson CL, Pfeiffer N, Pärssinen O, Baird PN, Vitart V, Amin N, van Duijn CM, Bailey-Wilson JE, Young TL, Saw SM, Stambolian D, MacGregor S, Guggenheim JA, Tung JY, Hammond CJ, Klaver CCW.

Nat Genet. 2018 Jun;50(6):834-848. doi: 10.1038/s41588-018-0127-7. Epub 2018 May 28.

22.

Retinal Pigment Epithelial Cells Control Early Mycobacterium tuberculosis Infection via Interferon Signaling.

La Distia Nora R, Walburg KV, van Hagen PM, Swagemakers SMA, van der Spek PJ, Quinten E, van Velthoven M, Ottenhoff THM, Dik WA, Haks MC.

Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1384-1395. doi: 10.1167/iovs.17-23246.

PMID:
29625462
23.

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.

Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A.

Genet Med. 2018 Nov;20(11):1405-1413. doi: 10.1038/gim.2018.18. Epub 2018 Mar 15.

PMID:
29543231
24.

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.

Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA.

Eur J Hum Genet. 2018 Apr;26(4):552-560. doi: 10.1038/s41431-017-0051-9. Epub 2018 Jan 26.

25.

Thyroid State Regulates Gene Expression in Human Whole Blood.

Massolt ET, Meima ME, Swagemakers SMA, Leeuwenburgh S, van den Hout-van Vroonhoven MCGM, Brigante G, Kam BLR, van der Spek PJ, van IJcken WFJ, Visser TJ, Peeters RP, Visser WE.

J Clin Endocrinol Metab. 2018 Jan 1;103(1):169-178. doi: 10.1210/jc.2017-01144.

PMID:
29069456
26.

Accuracy of fetal sex determination in the first trimester of pregnancy using 3D virtual reality ultrasound.

Bogers H, Rifouna MS, Koning AHJ, Husen-Ebbinge M, Go ATJI, van der Spek PJ, Steegers-Theunissen RPM, Steegers EAP, Exalto N.

J Clin Ultrasound. 2018 May;46(4):241-246. doi: 10.1002/jcu.22551. Epub 2017 Oct 19.

PMID:
29048748
27.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.

Theil AF, Mandemaker IK, van den Akker E, Swagemakers SMA, Raams A, Wüst T, Marteijn JA, Giltay JC, Colombijn RM, Moog U, Kotzaeridou U, Ghazvini M, von Lindern M, Hoeijmakers JHJ, Jaspers NGJ, van der Spek PJ, Vermeulen W.

Hum Mol Genet. 2017 Dec 1;26(23):4689-4698. doi: 10.1093/hmg/ddx351.

28.

Early- and late-onset preeclampsia and the tissue-specific epigenome of the placenta and newborn.

Herzog EM, Eggink AJ, Willemsen SP, Slieker RC, Wijnands KPJ, Felix JF, Chen J, Stubbs A, van der Spek PJ, van Meurs JB, Steegers-Theunissen RPM.

Placenta. 2017 Oct;58:122-132. doi: 10.1016/j.placenta.2017.08.070. Epub 2017 Aug 30.

29.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Goos JAC, Swagemakers SMA, Twigg SRF, van Dooren MF, Hoogeboom AJM, Beetz C, Günther S, Magielsen FJ, Ockeloen CW, A Ramos-Arroyo M, Pfundt R, Yntema HG, van der Spek PJ, Stanier P, Wieczorek D, Wilkie AOM, van den Ouweland AMW, Mathijssen IMJ, Hurst JA.

Eur J Hum Genet. 2017 Oct;25(10):1126-1133. doi: 10.1038/ejhg.2017.107. Epub 2017 Jul 26.

30.

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug.

31.

Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification.

Baas M, Stubbs AP, van Zessen DB, Galjaard RH, van der Spek PJ, Hovius SER, van Nieuwenhoven CA.

J Hand Surg Am. 2017 Jul;42(7):533-545.e4. doi: 10.1016/j.jhsa.2017.03.043.

PMID:
28669419
32.

Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.

Armes JE, Williams M, Price G, Wallis T, Gallagher R, Matsika A, Joy C, Galea M, Gardener G, Leach R, Swagemakers SM, Tearle R, Stubbs A, Harraway J, van der Spek PJ, Venter DJ.

Pediatr Dev Pathol. 2018 Jan-Feb;21(1):54-67. doi: 10.1177/1093526617715528. Epub 2017 Jun 22.

PMID:
28641477
33.

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. Erratum in: PLoS Genet. 2017 Aug 1;13(8):e1006923.

34.

Isolated Ventricular Noncompaction Cardiomyopathy Presenting as Fetal Hydrops at 24 Weeks Gestation.

Armes JE, Squires L, Lourie R, Williams M, Gallagher R, Price G, Stubbs A, Swagemakers SM, van der Spek PJ, Harraway J, Thomas J, Venter DJ.

Pediatr Dev Pathol. 2017 Jun;20(3):245-250. doi: 10.1177/1093526616686235. Epub 2017 Jan 25.

PMID:
28521630
35.

First-Trimester Crown-Rump Length and Embryonic Volume of Fetuses with Structural Congenital Abnormalities Measured in Virtual Reality: An Observational Study.

Baken L, Benoit B, Koning AHJ, van der Spek PJ, Steegers EAP, Exalto N.

Biomed Res Int. 2017;2017:1953076. doi: 10.1155/2017/1953076. Epub 2017 Mar 21.

36.

A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation.

Meesilpavikkai K, Dik WA, Schrijver B, Nagtzaam NM, van Rijswijk A, Driessen GJ, van der Spek PJ, van Hagen PM, Dalm VA.

Front Immunol. 2017 Mar 13;8:274. doi: 10.3389/fimmu.2017.00274. eCollection 2017.

37.

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2017 Feb 16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017.

38.

Genome-wide methylation analysis identifies novel CpG loci for perimembranous ventricular septal defects in human.

Wijnands KP, Chen J, Liang L, Verbiest MM, Lin X, Helbing WA, Gittenberger-de Groot AC, van der Spek PJ, Uitterlinden AG, Steegers-Theunissen RP.

Epigenomics. 2017 Mar;9(3):241-251. doi: 10.2217/epi-2016-0093. Epub 2017 Jan 31.

PMID:
28140654
39.

IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study.

Li Y, Buijs-Gladdines JG, Canté-Barrett K, Stubbs AP, Vroegindeweij EM, Smits WK, van Marion R, Dinjens WN, Horstmann M, Kuiper RP, Buijsman RC, Zaman GJ, van der Spek PJ, Pieters R, Meijerink JP.

PLoS Med. 2016 Dec 20;13(12):e1002200. doi: 10.1371/journal.pmed.1002200. eCollection 2016 Dec.

40.

Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.

Viennas E, Komianou A, Mizzi C, Stojiljkovic M, Mitropoulou C, Muilu J, Vihinen M, Grypioti P, Papadaki S, Pavlidis C, Zukic B, Katsila T, van der Spek PJ, Pavlovic S, Tzimas G, Patrinos GP.

Nucleic Acids Res. 2017 Jan 4;45(D1):D846-D853. doi: 10.1093/nar/gkw949. Epub 2016 Oct 18.

41.

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO.

J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.

42.

ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus.

Breton A, Theodorou A, Aktuna S, Sonzogni L, Darling D, Chan L, Menzel S, van der Spek PJ, Swagemakers SM, Grosveld F, Philipsen S, Thein SL.

Br J Haematol. 2016 Nov;175(3):525-530. doi: 10.1111/bjh.14256. Epub 2016 Jul 19.

PMID:
27434206
43.

Contrasting expression pattern of RNA-sensing receptors TLR7, RIG-I and MDA5 in interferon-positive and interferon-negative patients with primary Sjögren's syndrome.

Maria NI, Steenwijk EC, IJpma AS, van Helden-Meeuwsen CG, Vogelsang P, Beumer W, Brkic Z, van Daele PL, van Hagen PM, van der Spek PJ, Drexhage HA, Versnel MA.

Ann Rheum Dis. 2017 Apr;76(4):721-730. doi: 10.1136/annrheumdis-2016-209589. Epub 2016 Sep 26.

PMID:
27672125
44.

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2016 Sep 16;11(9):e0162866. doi: 10.1371/journal.pone.0162866. eCollection 2016. Erratum in: PLoS One. 2017 Feb 16;12 (2):e0172595.

45.

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.

Helsmoortel C, Swagemakers SM, Vandeweyer G, Stubbs AP, Palli I, Mortier G, Kooy RF, van der Spek PJ.

Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1049-1056. doi: 10.1002/ajmg.b.32473. Epub 2016 Jul 6.

PMID:
27380831
46.

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Goos JA, Fenwick AL, Swagemakers SM, McGowan SJ, Knight SJ, Twigg SR, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IM, Wilkie AO, van der Spek PJ, van den Ouweland AM.

Hum Mutat. 2016 Aug;37(8):732-6. doi: 10.1002/humu.23010. Epub 2016 Jun 2.

47.

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.

Ono R, Masaki T, Mayca Pozo F, Nakazawa Y, Swagemakers SM, Nakano E, Sakai W, Takeuchi S, Kanda F, Ogi T, van der Spek PJ, Sugasawa K, Nishigori C.

Photodermatol Photoimmunol Photomed. 2016 Jul;32(4):174-80. doi: 10.1111/phpp.12240. Epub 2016 Jun 30.

PMID:
26993158
48.

An International Ki67 Reproducibility Study in Adrenal Cortical Carcinoma.

Papathomas TG, Pucci E, Giordano TJ, Lu H, Duregon E, Volante M, Papotti M, Lloyd RV, Tischler AS, van Nederveen FH, Nose V, Erickson L, Mete O, Asa SL, Turchini J, Gill AJ, Matias-Guiu X, Skordilis K, Stephenson TJ, Tissier F, Feelders RA, Smid M, Nigg A, Korpershoek E, van der Spek PJ, Dinjens WN, Stubbs AP, de Krijger RR.

Am J Surg Pathol. 2016 Apr;40(4):569-76. doi: 10.1097/PAS.0000000000000574.

49.

FuMa: reporting overlap in RNA-seq detected fusion genes.

Hoogstrate Y, Böttcher R, Hiltemann S, van der Spek PJ, Jenster G, Stubbs AP.

Bioinformatics. 2016 Apr 15;32(8):1226-8. doi: 10.1093/bioinformatics/btv721. Epub 2015 Dec 10.

PMID:
26656567
50.

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Bennis A, Gorgels TG, Ten Brink JB, van der Spek PJ, Bossers K, Heine VM, Bergen AA.

PLoS One. 2015 Oct 30;10(10):e0141597. doi: 10.1371/journal.pone.0141597. eCollection 2015.

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